The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study

Recruiting

• Conditions: Alpha-1 Antitrypsin Deficiency

• Registration Number: NCT00500123
• Lead Sponsor: University of Florida

Brief Summary

The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.

Detailed Description

Genetic testing for alpha-1 antitrypsin deficiency is sometimes delayed despite established testing indications. All genetic tests have risks and possible benefits. The ACT study evaluates the population demographics, reasons for testing, and outcomes through a confidential testing program. Co-morbidities of alpha-1 antitrypsin deficiency other than lung and liver disease are being investigated. Concerns about genetic confidentiality are lessened in this study by a coded testing procedure that returns results through the mail to study participants.

Study Timeline

• Study Start: 2001-01
• Study First Submitted: 2007-07-11
• Study First Submitted QC: 2007-07-11
• Study First Posted: 2007-07-12
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-21
• Last Update Posted: 2024-10-23
• Primary Completion: 2050-01
• Study Completion: 2050-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 50000

Inclusion Criteria

• Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of symptoms or family genetic risk.

Exclusion Criteria

• Any person who has already had genotype and AAT level testing completed and has a qualified result.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Structured questionnaire responses on the risks and benefits of testing.	Before and after alpha-1 antitrypsin testing	Rotating questionnaires assess the clinical course and co-morbidities associated with different genotypes of alpha-1 antitrypsin deficiency.

Trial Locations

Locations (1)

University of Florida; 🇺🇸 Gainesville, Florida, United States